by Lauren Taylor from In The Cloud Copy
Duchenne muscular dystrophy (DMD) is a rare genetic condition that ultimately leads to the wasting away of muscles over time. The condition primarily affects males, but can also affect females in rare cases. Early signs of DMD include muscle weakness, leading to inability or delayed ability to sit, stand, or walk; difficulties in learning how to speak may also appear. This weakness is typically noticeable in early childhood and children are usually using a wheelchair by the time they are in their early teen years. Teen years also bring heart and breathing problems, which can lead to life threatening complications.
DMD is caused by a genetic change in the dystrophin gene, which ultimately leads to a failure in the formation of dystrophin protein. Dystrophin protein is part of a protein complex that works to build and strengthen muscle fibers. It is an inherited condition but it can often occur in individuals with no known family history of the disease. There is currently no known cure for DMD. Treatment is currently based on controlling the patient’s symptoms and complications. One company, Sarepta Therapeutics Inc., looks to change the future for DMD patients.
Micro-Dystrophin Gene Therapy
Sarepta Therapeutics has been working on the development of a gene transfer therapy for the treatment of patients with DMD. This investigational therapy, called SRP-9001, works by delivering its micro-dystrophin-encoding gene directly to the muscle tissue for production of the micro-dystrophin protein. Sarepta has had four patients with DMD enrolled in a clinical trial (Study 101), testing the safety and efficacy of SRP-9001 over a one-year period. After the one year period, patients have shown good responses and minimal side effects of the gene therapy. The study is ongoing, and results of part two, named Study 102, are expected in early 2021.
After reviewing results of Study 101, Sarepta was granted the Fast Track designation by the U.S. Food and Drug Administration last month. The Fast Track designation is designed to give expedited review and development to medications that can possibly treat serious conditions and fill unmet medical needs. In the case of DMD, where there is no known treatment, SRP-9001 meets those criteria. SRP-9001 was also granted another designation, the Rare Pediatric Disease designation.
Hopeful Future for DMD
The development and positive study results of Study 101 are leading to hope for the future of DMD patients and families. DMD is a terminal diagnosis with no known cure. Patients typically start losing muscle function in childhood and average life expectancy is only 26 years old. Current treatment options aim to control symptoms and improve quality of life of the affected individual, but no treatment currently targets the actual cause of DMD. Sarepta Therapeutics is hoping to change that with SRP-9001. This treatment gives hope for patients and families affected by this terminal disease. One day, hopefully in the very near future, DMD will no longer be a terminal diagnosis.
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